Dr. Karin Weiss

Biography

Dr. Karin Weiss is the head of the Genetics Institute at Rambam Health Care Center and an associate professor at the Faculty of Medicine, Technion Institute of Technology, Haifa, Israel.

Dr. Weiss specialized in Pediatrics at Tel Aviv Medical Center, and in Medical Genetics and Clinical Molecular Genetics at the NIH-Johns Hopkins Consortium residency in Maryland.

Dr. Weiss’s research focuses on understanding the clinical spectrum and molecular basis of rare Mendelian neurodevelopmental disorders. Dr. Weiss is specifically interested in dysmorphology and in disorders of epigenetic machinery and transcriptional regulation.

Specialization & Training

• Pediatrics Residency | Tel Aviv Medical Center, Israel
• Medical Genetics & Clinical Molecular Genetics Fellowship | NIH-Johns Hopkins Consortium Residency, Maryland, USA

Key Publications

• Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M. “De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms”. Am J Hum Genet. 2016 Oct 6;99(4):934-941.
• Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Gahli N, DDD study, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P. “Haploinsufficiency of ZNF462 is Associated with Craniofacial Anomalies, Corpus Callosum Dysgenesis, Ptosis and Developmental Delay”. Eur J Hum Genet. 2017 Aug;25(8):946-951.
• Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Vergano SAS, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Feldman HB, Campeau PM, Muenke M, Wade PA, Lachlan K. “The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype-Phenotype Correlations and Molecular Basis”. Genet Med. 2020 Feb;22(2):389-397.
• Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K. “RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function”. J Hum Genet. 2021 May.
• Samra N, Jansen NS, Morani I, Kakun RR, Zaid R, Paperna T, Garcia-Dominguez M, Viner Y, Frankenthal H, Shinwell ES, Portnov I, Bakry D, Shalata A, Shapira Rootman M, Kidron D, Claessens LA, Wevers RA, Mandel H, Vertegaal ACO, Weiss K. “Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia”. J Med Genet. 2023 Nov;60(11).
• Yara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, Clair Habib, Sarit Ravid, Galit Tal, Mitchell Schertz, Adi Mory, Amihood Zinger, Hagit Baris Feldman, Rinat Zaid, Tamar Paperna, Karin Weiss. “Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management”. Genetics in Medicine Open. 4 August 2023.
• Karim Karimi, Yael Lichtenstein, Jack Reilly, Haley McConkey, Raissa Relator, Michael A Levy, Jennifer Kerkhof, Arjan Bouman, Joseph D Symonds, Jamal Ghoumid, Thomas Smol, Katie Clarkson, Katy Drazba, Raymond J Louie, Valancy Miranda, Cathleen McCann, Jamie Motta, Emily Lancaster, Suzanne Sallevelt, Richard Sidlow, Jennifer Morrison, Mark Hannibal, Jessica O'Shea, Victor Marin, Chitra Prasad, Chirag Patel, Salmo Raskin, Seco Moro Maria-Noelia, Aranzazú Diaz de Bustamante, Daphna Marom, Tali Barkan, Boris Keren, Celine Poirsier, Lior Cohen, Estelle Colin, Kathleen Gorman, Emily Gallant, Leonie A Menke, Irene Valenzuela Palafoll, Natalie Hauser, Ingrid M Wentzensen, Julia Rankin, Peter D Turnpenny, Philippe M Campeau, Tugce B Balci, Matthew L Tedder, Bekim Sadikovic, Karin Weiss. “Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome”. Am J Hum Genet. 2025 Feb 6;112(2):414-427.
• Bratman Morag S, Itzkovich C, Kurolap A, Shohat M, Durr A, de Sainte Agathe JM, Bertrand J, Koifman A, Alkelai A, Shuldiner AR, Mory A, Harel T, Mor-Shaked H, Shalata A, Paperna T, Baris Feldman H, Kakun RR, Kornitzer D, Salzberg A, Weiss K. “A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis”. Genet Med. 2025 Nov;27(11):101569.